L7M (p.Leu7Met) variant of GHR (Growth hormone receptor)
L7M (p.Leu7Met) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 5-42565893-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.39
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available